Further workups:
•HbF 31.4% (2-24%)
•Folate and vit B12: Within Normal Limits
•Parvovirus qPCR: negative
•RBC Adenosine Deaminase : 950mU/g HB, (400-900)
Clinical Diagnosis: Diamond–Blackfan anemia (DBA)
Corticosteroid treatment was started before bone marrow study which was not able to perform due to the severe anemia and the rejection of blood transfusion by pt's parents for religion reason. The bone marrow was biopsied a week after the treatment. The bone marrow sample was sent for molecular test for DBA.
Click here for the microscopic pictures of the bone marrow.
BM is hypercellular and shows erythroid hyperplasia, which indicates either therapeutic response of DBA or reactive/recovering phase of other anemia. The molecular test confirmed the diagnosis of DBA, therefore the histologic findings of the BM indicates good response to steroid treatment.
Molecular test for BDA:
Next generation sequence analysis of 12 genes associated with DBA
•GATA1, RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26 L
Result/Interpretation
•POSITIVE: heterozygous pathogenic frameshift variant in the RPS19 gene
Diamond-Blackfan Anemia(DBA)
- Congenital pure erythroid aplasia
- Usually presents in infancy
- AD inheritance with incomplete penetrance, genetic heterogeneity
- Mostly ribosomal protein gene defect except rare case by GATA1 mutation
- Diagnosis: Anemia (macrocytic or normocytic), low reticulocyte count, decreased erythroid precursors in BM, elevated HbF, elevated RBC adenosine deaminase, congenital abnormalities
- Risk for leukemia (AML, MDS) or other malignancy
- Treatment: Corticosteroid, transfusion, BMT
•HbF 31.4% (2-24%)
•Folate and vit B12: Within Normal Limits
•Parvovirus qPCR: negative
•RBC Adenosine Deaminase : 950mU/g HB, (400-900)
Clinical Diagnosis: Diamond–Blackfan anemia (DBA)
Corticosteroid treatment was started before bone marrow study which was not able to perform due to the severe anemia and the rejection of blood transfusion by pt's parents for religion reason. The bone marrow was biopsied a week after the treatment. The bone marrow sample was sent for molecular test for DBA.
Click here for the microscopic pictures of the bone marrow.
BM is hypercellular and shows erythroid hyperplasia, which indicates either therapeutic response of DBA or reactive/recovering phase of other anemia. The molecular test confirmed the diagnosis of DBA, therefore the histologic findings of the BM indicates good response to steroid treatment.
Molecular test for BDA:
Next generation sequence analysis of 12 genes associated with DBA
•GATA1, RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26 L
Result/Interpretation
•POSITIVE: heterozygous pathogenic frameshift variant in the RPS19 gene
Diamond-Blackfan Anemia(DBA)
- Congenital pure erythroid aplasia
- Usually presents in infancy
- AD inheritance with incomplete penetrance, genetic heterogeneity
- Mostly ribosomal protein gene defect except rare case by GATA1 mutation
- Diagnosis: Anemia (macrocytic or normocytic), low reticulocyte count, decreased erythroid precursors in BM, elevated HbF, elevated RBC adenosine deaminase, congenital abnormalities
- Risk for leukemia (AML, MDS) or other malignancy
- Treatment: Corticosteroid, transfusion, BMT